SLC39A14 (NM_001128431) - solute carrier family 39 member 14
Metal Cation Symporter Zip14 Isoform A Precursor
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Protein summary
This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017].
Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Evidence data:
Transcript exon combination :: SRR1660807.105385.1, SRR1660803.143330.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348]
- Strand
- +
- Chromosome
- 8
- Protein
- 492 residues
- All mutations
- 66
- PTM sites
- 14
- CDS
- 22,262,223 - 22,277,211
- Transcription
- 22,224,761 - 22,280,249
Usage summary
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Kinase, PTM site or protein
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